RPL36AL

ribosomal protein L36a like, the group of L ribosomal proteins

Basic information

Region (hg38): 14:49618529-49620626

Previous symbols: [ "RPL36A", "RPL36AP42" ]

Links

ENSG00000165502 ∙ NCBI:6166 ∙ OMIM:180469 ∙ HGNC:10346 ∙ Uniprot:Q969Q0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL36AL gene.

• not provided (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL36AL gene is commonly pathogenic or not.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant						0
non coding					1	1
Total	0	0	1	0	1

Variants in RPL36AL

This is a list of pathogenic ClinVar variants found in the RPL36AL region.

Position	Type	Phenotype	Significance	ClinVar
14-49619044-G-A		Inborn genetic diseases	Uncertain significance (Jun 22, 2021)
14-49620530-T-C			Benign (Apr 25, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL36AL	protein_coding	protein_coding	ENST00000298289	1	2167

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0484	0.699	125566	0	24	125590	0.0000956

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	34	58.5	0.581	0.00000318	692
Missense in Polyphen		6	12.258	0.48949		172
Synonymous	0.249	19	20.4	0.930	9.87e-7	197
Loss of Function	0.634	2	3.23	0.619	2.21e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.417
• hipred: Y
• hipred_score: 0.730
• ghis: 0.619

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.903

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Rpl36al

Gene ontology

• Biological process: translation
• Cellular component: nucleus;endoplasmic reticulum;cytosol;plasma membrane;cytosolic large ribosomal subunit
• Molecular function: structural constituent of ribosome;protein binding